| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
4
|
12
|
No
|
Microcephaly
Short stature Dystonia, axial Dystonia, limb Dystonia, oromandibular Dystonia, craniofacial Dysarthria Developmental regression Dysmorphic features Abnormal central motor function Dystonia (any or unspecified) Abnormality of skeletal morphology Show more (+9) |
Developmental regression
|